Background: Robinow syndrome is a rare disease with short stature, characteristic phenotypical abnormalities, and intellectual integrity in most cases.
Case report: We present the case of a 13-year and one-month-old male who came for medical consultation at 3 years of age due to short stature. Additionally, the patient showed craniofacial dysmorphia, congenital heart disease, and growth hormone deficiency. As per family history, the mother presented the same phenotype. The genetic study identified an unreported variant of the WNT5A gene.
Conclusions: The patient initiated growth hormone treatment at a dose of 0.7 U/kg/week at 4 years of age with favorable results, increasing his height from the < 1st percentile to the 44th percentile.
Background: Mucormycosis is a rare infection caused by ubiquitous fungi of the Mucorales order that mainly affects immunocompromised patients. These fungi have an important tropism for blood vessels that allows them to spread rapidly and cause thromboembolic events.
Case report: We present a case of an 8-year-old male patient diagnosed with acute lymphoblastic leukemia treated with chemotherapy. He presented icteric syndrome, hepato-splenomegaly, and data of intestinal obstruction. Although he underwent intestinal resection, he did not improve and died. The autopsy identified disseminated mucormycosis involving the brain, lungs, esophagus, small intestine, colon, and pancreas.
Conclusions: Hematological neoplastic diseases and their treatment are important risk factors for developing infections by opportunistic microorganisms such as mucormycosis. Early diagnosis and adequate treatment are essential due to their intrinsic difficulty and the high mortality rate of these cases.
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